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Journal of Inherited Metabolic Disease|January 1, 1993
Introduction to the age-related diagnosis (ARD) index: an age at presentation related index for diagnostic useR A Harkness, E J HarknessJournal of Inherited Metabolic Disease|January 1, 1993
Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemiaT Tahara, J P Kraus, T Ohura, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemiaJ L Van Hove, D H Chace, S G Kahler, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991)P Di Natale, T Annella, A Daniele, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Extracellular and cerebrospinal fluidsM B SegalJournal of Inherited Metabolic Disease|January 1, 1993
Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseasesG P Gerrits, L A Monnens, F J Gabreëls, et al.Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brainR SurteesJournal of Inherited Metabolic Disease|January 1, 1993
Genetic analysis of Batten diseaseR M GardinerJournal of Inherited Metabolic Disease|January 1, 1993
Skin fibroblast carnitine uptake in secondary carnitine deficiency disordersI Tein, D C De Vivo, D Ranucci, et al.Pageof 429